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Congenital ptosis, scoliosis and malignant hyperthermia susceptib | 54851
Journal of Clinical and Experimental Ophthalmology

Journal of Clinical and Experimental Ophthalmology
Open Access

ISSN: 2155-9570

Congenital ptosis, scoliosis and malignant hyperthermia susceptibility in siblings with recessive RYR1 mutations


10th International Conference on Clinical & Experimental Ophthalmology

November 21-23, 2016 Dubai, UAE

Amani Al Bakri, Mohammad Karaoui, Fowzan S Alkuraya and Arif O Khan

King Khaled Eye Specialist Hospital, KSA

Posters & Accepted Abstracts: J Clin Exp Ophthalmol

Abstract :

The study aims to identify those children with ptosis and who are the candidates for ophthalmic surgery; who might harbor RYR1 mutations, because intraoperative malignant hyperthermia is potentially lethal. We report for the first time congenital ptosis as the only ophthalmic findings in 2 siblings with scoliosis and underlying recessive RYR1 mutations. Malignant hyperthermia susceptibility is a rare pharmacogenic disorder of skeletal muscle calcium regulation caused by mutations in the skeletal muscle ryanodine receptor 1 (RYR1) gene. It is important to identify those children who are candidates for ophthalmic surgery, who might harbor RYR1 mutations.

Biography :

Amani Al Bakri has completed her Ophthalmology Residency training in King Khaled Eye Specialist Hospital, Saudi Arabia. Currently, she is in her final year of Fellowship in Pediatric Ophthalmology and Strabismus, published few papers and is looking forward to publish more in ocular genetic field.

Email: abakri@kkesh.med.sa

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